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Article

A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.

Journal of child neurology - 1 Mar 2015

Straussberg Rachel, Marom Daphna, Sanado-Inbar Esther, Lakovsky Yaniv, Horev Gadi, Shalev Stavit A, Lev Dorit, Lerman-Sagie Tally, Leshinsky-Silver Esther

Abstract excerpt

Aicardi-Goutières syndrome is a genetic neurodegenerative disorder with clinical symptoms mimicking a congenital viral infection. Mutations in 6 genes are known to cause the disease: 3 prime repair exonuclease1, ribonucleases H2A, B, and C, SAM domain and HD domain 1, and most recently ADAR1. HD domain 1 mutations were previously reported in the Ashkenazi-Jewish community. We report an additional patient of...

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Source

Identifiers

PMID: 25246298
DOI: 10.1177/0883073814549241

Genes

SAMHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.PMID 25246298Read ↗

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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseSemantic proximity Read ↗

SAMHD1 Mutations Are Also Responsible for Aicardi-Goutières in the Cree Population.Semantic proximity Read ↗

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletionsSemantic proximity Read ↗

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Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.Semantic proximity Read ↗

A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.Semantic proximity Read ↗

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SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.Semantic proximity Read ↗

Effects of human SAMHD1 polymorphisms on HIV-1 susceptibility.Semantic proximity Read ↗

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